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Article

ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

Journal of neurology - 1 Jan 2017

Musacchio Thomas, Zaum Ann-Kathrin, Üçeyler Nurcan, Sommer Claudia, Pfeifroth Nora, Reiners Karlheinz, Kunstmann Erdmute, Volkmann Jens, Rost Simone, Klebe Stephan

Abstract excerpt

Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenotype ranging from subclinical signs to a severe and rapidly progressing amyotrophic lateral...

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Source

Identifiers

PMID: 27738760
DOI: 10.1007/s00415-016-8301-2

Genes

BSCL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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